Advertisement

How is Rett syndrome diagnosed?

Doctors clinically diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development and by conducting ongoing evaluations of the child's physical and neurological status. Scientists have developed a genetic test to complement the clinical diagnosis, which involves searching for the methyl CpG binding protein 2 (MECP2) mutation on the child's X chromosome.

A physician will use a highly specific set of guidelines that are divided into three types of clinical criteria: essential, supportive, and exclusion. The presence of any of the exclusion criteria negates a diagnosis of classic Rett syndrome.

Supportive criteria are not required for a diagnosis of Rett syndrome but may occur in some individuals. In addition, these symptoms-which vary in severity from child to child-may not be observed in very young girls but may develop with age. A child with supportive criteria but none of the essential criteria does not have Rett syndrome. Supportive criteria include breathing difficulties, electroencephalogram (EEG) abnormalities, seizures, muscle rigidity, spasticity and/or joint contractures that worsen with age, scoliosis, teeth grinding, small hands and feet in relation to height, growth retardation, decreased body fat and muscle mass (although there may be a tendency toward obesity in some affected adults), abnormal sleep patterns, irritability or agitation, chewing and/or swallowing difficulties, poor circulation of the lower extremities with cold and bluish-red feet and legs, decreased mobility with age, and constipation.

In addition to the essential diagnostic criteria, a number of specific conditions enable physicians to rule out a diagnosis of Rett syndrome. These are referred to as exclusion criteria. Children with any one of the following criteria do not have Rett syndrome-enlargement of body organs or other signs of storage disease, vision loss due to a retinal disorder or optic atrophy, abnormally small head at birth (microcephaly), an identifiable metabolic disorder or other inherited degenerative disorder, an acquired neurological disorder resulting from severe infection or head trauma, evidence of growth retardation in utero, or evidence of brain damage acquired after birth.

This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

Continue Learning about Genetic Disorders

Must-Know Facts About Mitochondrial Disease
Must-Know Facts About Mitochondrial Disease
If there’s one thing you remember from high school biology, it’s probably this: Mitochondria are the powerhouses of the cells. It stands to reason tha...
Read More
Warning Signs of a Hereditary Angioedema Attack
Warning Signs of a Hereditary Angioedema Attack
Hereditary angioedema, also called HAE, is a rare genetic disorder that affects an estimated 6,000 to 10,000 people in the United States. People who h...
Read More
What are the main types of genetic disorders?
Honor Society of Nursing (STTI)Honor Society of Nursing (STTI)
Genetic disorders can be grouped into three different categories. Single gene disorders result from ...
More Answers
Why should children with tuberous sclerosis (TSC) be evaluated for surgery?
Dr. Aria Fallah, MDDr. Aria Fallah, MD
Children with tuberous sclerosis (TSC) should be evaluated for surgery to try to cure seizures. Sixt...
More Answers

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.